Canonical Allele Identifier: CA369565724
Gene: MGAM HGNC NCBI
TAS2R38 HGNC NCBI
OR9A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.141973469C>G
GRCh37 chr7:g.141673269C>G
Revel Score:
ENST00000547270 (MANE Select) 0.085
gnomAD v4:
chr7-141973469-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004365000
ClinVar Variation:
2618489
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141973469C>G , CM000669.2:g.141973469C>G GRCh38
NC_000007.13:g.141673269C>G , CM000669.1:g.141673269C>G GRCh37
NC_000007.12:g.141319738C>G NCBI36
NG_016141.1:g.5305G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000465654.5:c.-3+27472C>G (MGAM) ENSP00000419372.1:n.-3+27472C>G
ENST00000547270.1:c.221G>C (TAS2R38) MANE Select ENSP00000448219.1:p.Ser74Thr
NM_176817.4:c.221G>C (TAS2R38) NP_789787.4:p.Ser74Thr
XM_011515783.1:c.*25-12927C>G (OR9A4) XP_011514085.1:n.*25-12927C>G
NM_176817.5:c.221G>C (TAS2R38) MANE Select NP_789787.5:p.Ser74Thr
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